T J Vulliamy - JoVE Visualize

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Human Genetics|May 31, 2001

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosisS W Knight, T J Vulliamy, B Morgan, et al.

Blood Cells, Molecules & Diseases|June 1, 1999

Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expressionP J Mason, D Stevens, A Diez, et al.

Blood Cells, Molecules & Diseases|November 29, 2005

Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infantM J Percy, L J Crowley, D Roper, et al.

Genomics|July 1, 1993

G6PD haplotypes spanning Xq28 from F8C to red/green color visionS Filosa, V Calabrò, G Lania, et al.

Human Genetics|April 1, 1990

A PvuII restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific markerM F Fey, J S Wainscoat, E C Mukwala, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1991

Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-T J Vulliamy, A Othman, M Town, et al.

Human Genetics|March 1, 1992

Molecular heterogeneity underlying the G6PD Mediterranean phenotypeC M Corcoran, V Calabrò, G Tamagnini, et al.

Blood|August 10, 1999

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrierT J Vulliamy, S W Knight, N S Heiss, et al.

American Journal of Human Genetics|January 1, 1995

Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)M Ganczakowski, M Town, D K Bowden, et al.

Molecular and Biochemical Parasitology|April 1, 1994

Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium falciparumE O'Brien, B Kurdi-Haidar, W Wanachiwanawin, et al.

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Showing results (11-20 of 31) with videos related to

Sort By:

Pageof 4

Human Genetics|May 31, 2001

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosisS W Knight, T J Vulliamy, B Morgan, et al.

Blood Cells, Molecules & Diseases|June 1, 1999

Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expressionP J Mason, D Stevens, A Diez, et al.

Blood Cells, Molecules & Diseases|November 29, 2005

Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infantM J Percy, L J Crowley, D Roper, et al.

Genomics|July 1, 1993

G6PD haplotypes spanning Xq28 from F8C to red/green color visionS Filosa, V Calabrò, G Lania, et al.

Human Genetics|April 1, 1990

A PvuII restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific markerM F Fey, J S Wainscoat, E C Mukwala, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1991

Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-T J Vulliamy, A Othman, M Town, et al.

Human Genetics|March 1, 1992

Molecular heterogeneity underlying the G6PD Mediterranean phenotypeC M Corcoran, V Calabrò, G Tamagnini, et al.

Blood|August 10, 1999

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrierT J Vulliamy, S W Knight, N S Heiss, et al.

American Journal of Human Genetics|January 1, 1995

Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)M Ganczakowski, M Town, D K Bowden, et al.

Molecular and Biochemical Parasitology|April 1, 1994

Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium falciparumE O'Brien, B Kurdi-Haidar, W Wanachiwanawin, et al.

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